Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

The GaNE programme in a global perspective

This paper provides the background to this special issue, outlining the extent to which the global atmospheric nitrogen cycle has been modified by human activity and outlining the range of effects. The global total emissions of reduced and oxidized nitrogen, amount to 124 Tg N, and exceed those from natural sources (34 Tg N) by almost a factor of four showing the extent to which anthropogenic activity has taken over the global N cycle. Of the 124 Tg N, 70 Tg N is emitted in the oxidized form, largely as NO and 70% of which results directly from anthropogenic activity. The remaining 54 Tg N is emitted as NH₃, (66% anthropogenic). The enhanced nitrogen emissions are associated with a range of local, regional and global issues including, acidification, eutrophication, climate change, human health and tropospheric O₃. The paper also places the Global Nitrogen Enrichment (GaNE) research programme in the UK in a wider perspective.     

Transforming open mining pits into fish farms: Moving towards sustainability

The legacy of mining activities has typically been land ‘returned to wildlife’, or, at some sites, degraded to such an extent that it is unsuitable for any alternate use. Progress towards sustainability is made when value is added in terms of the ecological, social and economic well‐being of the community. In keeping with the principles of sustainable development, the innovative use of flooded open pits and tailings impoundments as commercial, recreational or ornamental fish farms should be considered in some locations, as it could make a significant contribution to the social equity, economic vitality and environmental integrity of mining communities. This article highlights the growing significance of aquaculture and explores the benefits and barriers to transforming flooded pits and impoundments into aquaculture operations. Among other benefits, aquaculture may provide a much‐needed source of revenue, employment and, in some cases, food to communities impacted by mine closure. Further, aquaculture in a controlled closed environment may be more acceptable to critics of fish farming who are concerned about fish escapes and viral transmissions to wild populations. Despite the potential benefits, aquaculture in flooded pits and impoundments is not without its complications — it requires a site‐specific design approach that must consider issues ranging from metals uptake by fish, to the long‐term viability of the aquatic system as fish habitat, to the overall contribution of aquaculture to sustainability.     

ACCURACY OF LAKE AND STREAM TEMPERATURES ESTIMATED FROM THERMAL INFRARED IMAGES1

Emitted thermal infrared radiation (TIR, λ= 8 to 14 μm) can be used to measure surface water temperatures (top approximately 100 μm). This study evaluates the accuracy of stream (50 to 500 m wide) and lake (300 to 5,000 m wide) radiant temperatures (15 to 22°C) derived from airborne (MASTER, 5 to 15 m) and satellite (ASTER 90 m, Landsat ETM+ 60 m) TIR images. Applied atmospheric compensations changed water temperatures by ?0.2 to +2.0°C. Atmospheric compensation depended primarily on atmospheric water vapor and temperature, sensor viewing geometry, and water temperature. Agreement between multiple TIR bands (MASTER ‐ 10 bands, ASTER ‐ 5 bands) provided an independent check on recovered temperatures. Compensations improved agreement between image and in situ surface temperatures (from 2.0 to 1.1°C average deviation); however, compensations did not improve agreement between river image temperatures and loggers installed at the stream bed (from 0.6 to 1.6°C average deviation). Analysis of field temperatures suggests that vertical thermal stratification may have caused a systematic difference between instream gage temperatures and corrected image temperatures. As a result, agreement between image temperatures and instream temperatures did not imply that accurate TIR temperatures were recovered. Based on these analyses, practical accuracies for corrected TIR lake and stream surface temperatures are around 1°C.     

Once there was a river: a benefit–cost analysis of rehabilitation of the Jordan River

The Jordan River is among the world’s most famous and culturally and historically significant waterways. The lower stretch of the river, however, has been a victim of development in a water scarce region, with current flows less than 5 % of historical levels. Furthermore, as it functions as an international border in a region of conflict, access to the river and its potential as a tourist attraction has been limited. Recently, there have been numerous calls for rehabilitation of the river. This study presents a first estimate of the economic benefits of such rehabilitation and compares them to the estimated costs. Identical contingent valuation method surveys were administered in Israel, Jordan, and the Palestinian Authority. Evidence from this study shows that, despite the large opportunity costs of increasing environmental flows, rehabilitation of the lower Jordan would produce positive net economic benefits. This is true even though the study estimated only the benefits to local populations, and not to international tourists or those outside the region. Net benefits are maximized when taking a regional, as opposed to strictly national, approach.     

Framing Dynamics and Political Gridlock: The Curious Case of Hydraulic Fracturing in New York

‘Fracking’ was on New York's agenda since 2008, yet no decision was made about it until late 2014. The gridlock is an intriguing puzzle given that the Marcellus shale is considered a ‘world class’ energy supply, and development has been aggressive in other US states. While policy scholars typically conceptualize gridlock as policy stability, this paper examines it as a dynamic process by which competing discourse coalitions engage in interactive framing processes that (re)structure the discussion. This suggests that the interaction between contending coalitions influences gridlock. Yet, we lack knowledge about interactive framing between competing coalitions during policy controversies. Our main finding is that a central mechanism of gridlock is the production of conflict through interactive framing dynamics that deny a shared discursive space capable of ushering in a consensus, or reasoned agreement. In New York, this contest evolved from a policy consensus about the economic benefits of fracking to policy negotiation that incorporated environmental threats, and to prolonged policy controversy in which competing discourse coalitions contested notions of fracking in relation to energy production, environmental protection, public health, economic development, and governance. While a ban has been instituted, the failure to bridge discourse coalitions suggests that controversy will persist unless meaning disputes are resolved.